Gene info: ID 7518

Gene: XRCC4

GENE ID: 7518

Synonyms: SSMED

Description: X-ray repair cross complementing 4

Gene type: protein-coding

Location: 5q14.2

dbXrefs: Ensembl:ENSG00000152422 MIM:194363 Vega:OTTHUMG00000131319 UniprotKB:Q13426

RefSeq: NG_047086.1

Retrived from: PubMed

SNPs: 0 ANCO-SNPs

Phenotype: ND|AD

# Publications: 10

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 6.292e-1 (AD) 8.387e-2 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
POT1	0.761
ARFIP1	0.751
GCA	0.745
ETAA1	0.744
TMBIM4	0.743
EXOSC8	0.742
NSMCE4A	0.741
ALG5	0.733
UFL1	0.733
DIMT1	0.733

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.411
OR4F29	-0.377
PTGDR2	-0.293
HGFAC	-0.251
SOHLH1	-0.229
LINC00452	-0.228
HDAC10	-0.225
GGN	-0.218
CHRNA2	-0.218
ADAMTSL5	-0.205

ID	Drug Name	Drug Type	CAS Num	Status	Role
DB03963	S-(Dimethylarsenic)Cysteine	Small Molecule		Experimental	Target

ID	Drug Name	Action	PubMed
C023514	2,6-dinitrotoluene	"2,6-dinitrotoluene affects the expression of XRCC4 mRNA"	21346803
C030682	3-chlorophenol	3-chlorophenol results in increased expression of XRCC4 mRNA	18486366
D000082	Acetaminophen	Acetaminophen results in decreased expression of XRCC4 mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of XRCC4 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of XRCC4 mRNA	19770486
D000393	Air Pollutants	Air Pollutants results in increased expression of XRCC4 protein	28389379
D016590	Aphidicolin	XRCC4 results in decreased susceptibility to Aphidicolin	21785230
D001151	Arsenic	Arsenic results in decreased expression of XRCC4 mRNA	21332098
D001151	Arsenic	Arsenic results in decreased expression of XRCC4 protein	21332098
D001151	Arsenic	Curcumin inhibits the reaction [Arsenic results in decreased expression of XRCC4 mRNA]	21332098
D001151	Arsenic	Curcumin inhibits the reaction [Arsenic results in decreased expression of XRCC4 protein]	21332098
C006632	arsenic trioxide	arsenic trioxide results in decreased expression of XRCC4 mRNA	17530438
D001280	Atrazine	Atrazine results in increased expression of XRCC4 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of XRCC4 mRNA	20064835\|2010694
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of XRCC4 mRNA	19770486\|2171566
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of XRCC4 mRNA	22228805
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	"7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of XRCC4 mRNA"	19150397\|2001819
C006780	bisphenol A	bisphenol A affects the expression of XRCC4 mRNA	25181051
D002166	Camptothecin	XRCC4 results in decreased susceptibility to Camptothecin	21785230
D002746	Chlorpromazine	Chlorpromazine results in decreased expression of XRCC4 mRNA	15924885
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of XRCC4 mRNA	27793765
D003474	Curcumin	Curcumin inhibits the reaction [Arsenic results in decreased expression of XRCC4 mRNA]	21332098
D003474	Curcumin	Curcumin inhibits the reaction [Arsenic results in decreased expression of XRCC4 protein]	21332098
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of XRCC4 mRNA]	27941970
D002945	Cisplatin	XRCC4 results in decreased susceptibility to Cisplatin	21785230
D002945	Cisplatin	Cisplatin results in decreased expression of XRCC4 mRNA	21151649
C118739	entinostat	entinostat results in increased expression of XRCC4 mRNA	27188386
C045651	epigallocatechin gallate	epigallocatechin gallate inhibits the reaction [potassium chromate(VI) results in decreased expression of XRCC4 mRNA]	22079256
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of XRCC4 mRNA	22079256
D005047	Etoposide	BRCA1 protein mutant form inhibits the reaction [Etoposide results in increased expression of XRCC4 protein]	16417649
D005047	Etoposide	Etoposide results in increased expression of XRCC4 protein	16417649
D005047	Etoposide	XRCC4 results in decreased susceptibility to Etoposide	21785230
D005467	Floxuridine	XRCC4 results in decreased susceptibility to Floxuridine	21785230
D005557	Formaldehyde	Formaldehyde results in decreased expression of XRCC4 mRNA	23649840
D006918	Hydroxyurea	XRCC4 results in decreased susceptibility to Hydroxyurea	21785230
D007052	Ibuprofen	Ibuprofen results in increased expression of XRCC4 mRNA	28201806
C051890	irinotecan	irinotecan metabolite results in decreased expression of XRCC4 mRNA	15956246
C051890	irinotecan	irinotecan results in decreased expression of XRCC4 mRNA	15956246
C544151	jinfukang	jinfukang results in decreased expression of XRCC4 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of XRCC4 mRNA	24796395
D007854	Lead	Lead affects the expression of XRCC4 mRNA	22313790
D007854	Lead	XRCC4 gene polymorphism affects the susceptibility to Lead	22466227
D018021	Lithium Chloride	Lithium Chloride results in increased expression of XRCC4 mRNA	19285016
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of XRCC4 mRNA	26011545
D008741	Methyl Methanesulfonate	XRCC4 results in decreased susceptibility to Methyl Methanesulfonate	21785230
D016685	Mitomycin	XRCC4 results in decreased susceptibility to Mitomycin	21785230
D016686	Monocrotaline	[Monocrotaline co-treated with Rifampin co-treated with Phenytoin co-treated with PRKDC] results in decreased expression of XRCC4 mRNA	21224054
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of XRCC4 mRNA	22108045
D009532	Nickel	Nickel results in increased expression of XRCC4 mRNA	25583101
C022838	nickel chloride	nickel chloride affects the expression of XRCC4 mRNA	28472268
C022838	nickel chloride	nickel chloride results in increased expression of XRCC4 protein	28472268
D019319	Okadaic Acid	Okadaic Acid results in increased expression of XRCC4 mRNA	25270620
C030110	oxaliplatin	[oxaliplatin co-treated with Topotecan] results in decreased expression of XRCC4 mRNA	25729387
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of XRCC4 mRNA	18486366
D010634	Phenobarbital	Phenobarbital affects the expression of XRCC4 mRNA	19136022
D010672	Phenytoin	[Monocrotaline co-treated with Rifampin co-treated with Phenytoin co-treated with PRKDC] results in decreased expression of XRCC4 mRNA	21224054
C006253	pirinixic acid	pirinixic acid affects the expression of XRCC4 mRNA	19136022
C006253	pirinixic acid	pirinixic acid results in increased expression of XRCC4 mRNA	18301758\|2381119
C027373	potassium chromate(VI)	epigallocatechin gallate inhibits the reaction [potassium chromate(VI) results in decreased expression of XRCC4 mRNA]	22079256
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of XRCC4 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of XRCC4 mRNA	22079256
D011374	Progesterone	Progesterone results in increased expression of XRCC4 mRNA	18070364
C031280	pyrazole	pyrazole results in increased expression of XRCC4 mRNA	17945193
C547185	riccardin D	riccardin D results in decreased expression of XRCC4 mRNA	24069304
D012293	Rifampin	[Monocrotaline co-treated with Rifampin co-treated with Phenytoin co-treated with PRKDC] results in decreased expression of XRCC4 mRNA	21224054
C017947	sodium arsenite	sodium arsenite results in decreased expression of XRCC4 mRNA	25787150
D013654	Taurine	Taurine results in increased expression of XRCC4 mRNA	16579726
C003377	taxifolin	taxifolin results in increased expression of XRCC4 mRNA	17541156
D013662	Tea	Tea results in increased expression of XRCC4 mRNA	22181980
D013662	Tea	Tea results in increased expression of XRCC4 protein	22181980
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to XRCC4 promoter]	19654925
D019772	Topotecan	[oxaliplatin co-treated with Topotecan] results in decreased expression of XRCC4 mRNA	25729387
D014635	Valproic Acid	Valproic Acid affects the expression of XRCC4 mRNA	25979313
D014635	Valproic Acid	Valproic Acid affects the expression of XRCC4 mRNA	17963808
D014638	Vanadates	Vanadates results in increased expression of XRCC4 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of XRCC4 gene	25560391
C111237	vorinostat	vorinostat results in increased expression of XRCC4 mRNA	27188386
D015032	Zinc	Zinc deficiency results in decreased expression of XRCC4 mRNA	18356318

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0003677	DNA binding	NOT	IDA	9259561
GO:0005515	protein binding	-	IPI	9809069 11702069 15380105 15385968 16275660 16439205 16713569 17124166 17353262 17353931 17389648 17396150 18064046 21349273 21637298 21768349 22529269 23178593 23219551 24095731 25416956 25910212 26496610
GO:0008022	protein C-terminus binding	-	IPI	9259561
GO:0016874	ligase activity	NOT	IDA	9242410
GO:0042802	identical protein binding	-	IPI	16169070 21768349 25416956

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0006302	double-strand break repair	-	IDA	9242410
GO:0006303	double-strand break repair via nonhomologous end joining	-	IBA	21873635
GO:0006303	double-strand break repair via nonhomologous end joining	-	IDA	12517771
GO:0006303	double-strand break repair via nonhomologous end joining	-	IMP	9809069
GO:0006303	double-strand break repair via nonhomologous end joining	-	NAS	16439205
GO:0006303	double-strand break repair via nonhomologous end joining	-	TAS	-
GO:0006310	DNA recombination	-	IEA	-
GO:0010165	response to X-ray	-	IDA	9242410
GO:0051103	DNA ligation involved in DNA repair	-	IDA	12517771
GO:0051351	positive regulation of ligase activity	-	IDA	9242410
GO:0071285	cellular response to lithium ion	-	IEA	-
GO:0075713	establishment of integrated proviral latency	-	TAS	-

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0000793	condensed chromosome	NOT	IDA	12589063
GO:0005634	nucleus	-	IBA	21873635
GO:0005634	nucleus	-	IDA	9259561 12589063
GO:0005634	nucleus	-	NAS	16439205
GO:0005654	nucleoplasm	-	IDA	-
GO:0005654	nucleoplasm	-	TAS	-
GO:0005829	cytosol	-	IDA	9259561
GO:0005958	DNA-dependent protein kinase-DNA ligase 4 complex	-	IDA	15194694
GO:0032807	DNA ligase IV complex	-	IDA	9242410
GO:0070419	nonhomologous end joining complex	-	IDA	20383123 25941166

KEGG ID	KEGG Term
hsa03450	Non-homologous end-joining

Reactome ID	Reactome Term	Evidence
R-HSA-162587	HIV Life Cycle	TAS
R-HSA-162592	Integration of provirus	TAS
R-HSA-162594	Early Phase of HIV Life Cycle	TAS
R-HSA-162906	HIV Infection	TAS
R-HSA-1643685	Disease	TAS
R-HSA-164843	2-LTR circle formation	TAS
R-HSA-2990846	SUMOylation	TAS
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-5663205	Infectious disease	TAS
R-HSA-5693532	DNA Double-Strand Break Repair	TAS
R-HSA-5693571	Nonhomologous End-Joining (NHEJ)	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-73894	DNA Repair	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal
18164646	A novel single nucleotide polymorphism in XRCC4 gene is associated with oral cancer susceptibility in Taiwanese patients. (2008 Sep)	Chiu CF	Oral Oncol
14698416	DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. (2004 Jan 12)	Relton CL	Mutat Res
19408343	Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study. (2009 Jul 1)	Tseng RC	Cancer
21617942	Gene variants of XRCC4 and XRCC3 and their association with risk for urothelial bladder cancer. (2012 Feb)	Mittal RD	Mol Biol Rep
18630527	Association of XRCC4 codon 247 polymorphism with oral cancer susceptibility in Taiwan. (2008 May-Jun)	Tseng HC	Anticancer Res
23663450	Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility. (2013 May 10)	Zhao P	BMC Cancer
29050484	eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia. (2017)	Pehlivan S	Bratisl Lek Listy
15746160	Constitutional short telomeres are strong genetic susceptibility markers for bladder cancer. (2005 Jul)	Broberg K	Carcinogenesis
15680411	DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers. (2005 Feb 15)	Wilding CS	Mutat Res
19729825	Lung cancer susceptibility and genetic polymorphism of DNA repair gene XRCC4 in Taiwan. (2009)	Hsu NY	Cancer Biomark